Skewed x-chromosome inactivation in women with idiopathic intellectual disability is indicative of pathogenic variants (2023)
- Authors:
- USP affiliated authors: COSTA, SILVIA SOUZA DA - IB ; BERTOLA, DÉBORA ROMEO - IB ; OTTO, PAULO ALBERTO - IB ; ROSENBERG, CARLA - IB ; MORGANTE, ANGELA MARIA VIANNA - IB ; KREPISCHI, ANA CRISTINA VICTORINO - IB ; CHAVES, LUIZA DIAS - IB ; CARVALHO, LAURA MACHADO LARA - IB ; TOLEZANO, GIOVANNA CANTINI - IB ; PIRES, SARA FERREIRA - IB
- Unidade: IB
- DOI: 10.1007/s12035-023-03311-0
- Subjects: MULHERES; CROMOSSOMO X; RETARDO MENTAL; GENÉTICA MÉDICA
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Publisher place: Heidelberg
- Date published: 2023
- Source:
- Título: Molecular Neurobiology
- ISSN: 1559-1182
- Volume/Número/Paginação/Ano: v. 60, p. 3758–3769, 2023
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
CHAVES, Luiza D et al. Skewed x-chromosome inactivation in women with idiopathic intellectual disability is indicative of pathogenic variants. Molecular Neurobiology, v. 60, p. 3758–3769, 2023Tradução . . Disponível em: https://doi.org/10.1007/s12035-023-03311-0. Acesso em: 13 fev. 2026. -
APA
Chaves, L. D., Carvalho, L. M. L., Tolezano, G. C., Pires, S. F., Costa, S. S., Scliar, M. O. de, et al. (2023). Skewed x-chromosome inactivation in women with idiopathic intellectual disability is indicative of pathogenic variants. Molecular Neurobiology, 60, 3758–3769. doi:10.1007/s12035-023-03311-0 -
NLM
Chaves LD, Carvalho LML, Tolezano GC, Pires SF, Costa SS, Scliar MO de, Giuliani L de R, Bertola DR, Santos-Rebouças CB, Seo GH, Otto PA, Rosenberg C, Vianna-Morgante AM, Krepischi ACV. Skewed x-chromosome inactivation in women with idiopathic intellectual disability is indicative of pathogenic variants [Internet]. Molecular Neurobiology. 2023 ; 60 3758–3769.[citado 2026 fev. 13 ] Available from: https://doi.org/10.1007/s12035-023-03311-0 -
Vancouver
Chaves LD, Carvalho LML, Tolezano GC, Pires SF, Costa SS, Scliar MO de, Giuliani L de R, Bertola DR, Santos-Rebouças CB, Seo GH, Otto PA, Rosenberg C, Vianna-Morgante AM, Krepischi ACV. Skewed x-chromosome inactivation in women with idiopathic intellectual disability is indicative of pathogenic variants [Internet]. Molecular Neurobiology. 2023 ; 60 3758–3769.[citado 2026 fev. 13 ] Available from: https://doi.org/10.1007/s12035-023-03311-0 - Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases
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- Does increase in genomic microarray resolution result in increased diagnostic yield?
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Informações sobre o DOI: 10.1007/s12035-023-03311-0 (Fonte: oaDOI API)
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